A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572989



Internal ID16013712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75514182..75543661hg38UCSC Ensembl
Innerchr16:75548080..75577559hg19UCSC Ensembl
Innerchr16:74105581..74135060hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3829480
hg1929480
hg1829480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5190n54
Supporting Variantsnssv859191, nssv859192
Samples
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572989
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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